MCID: APP015
MIFTS: 52

Apparent Mineralocorticoid Excess malady

Categories: Genetic diseases, Rare diseases, Cardiovascular diseases, Nephrological diseases, Endocrine diseases, Metabolic diseases

Aliases & Classifications for Apparent Mineralocorticoid Excess

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Sources:
11Disease Ontology, 12diseasecard, 13DISEASES, 24GeneTests, 26GTR, 30ICD10 via Orphanet, 36MedGen, 38MeSH, 39MESH via Orphanet, 44NCIt, 47NIH Rare Diseases, 51OMIM, 53Orphanet, 61SNOMED-CT, 63The Human Phenotype Ontology, 67UMLS, 68UMLS via Orphanet, 69UniProtKB/Swiss-Prot
See all MalaCards sources

Aliases & Descriptions for Apparent Mineralocorticoid Excess:

Name: Apparent Mineralocorticoid Excess 51 47 53 69 12 67
Cortisol 11-Beta-Ketoreductase Deficiency 47 24 69 67
Apparent Mineralocorticoid Excess Syndrome 11 24 13
Ame 47 24 69
Syndrome of Apparent Mineralocorticoid Excess 11 26
 
Mineralocorticoid Excess Syndrome, Apparent 38 67
Ame1 24 69
11-Beta-Hydroxysteroid Dehydrogenase Deficiency Type 2 53
Ulick Syndrome 53
Ame 1 47

Characteristics:

Orphanet epidemiological data:

53
apparent mineralocorticoid excess:
Inheritance: Autosomal recessive; Age of onset: Infancy,Neonatal; Age of death: any age

HPO:

63
apparent mineralocorticoid excess:
Inheritance: autosomal recessive inheritance
Onset and clinical course: variable expressivity

Classifications:



External Ids:

OMIM51 218030
Disease Ontology11 DOID:4367
MeSH38 D043204
NCIt44 C123231
Orphanet53 ORPHA320
SNOMED-CT61 237770005
UMLS via Orphanet68 C0342488, C2936861
ICD10 via Orphanet30 E26.1
MESH via Orphanet39 C537422, D043204
MedGen36 C2936861

Summaries for Apparent Mineralocorticoid Excess

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OMIM:51 Apparent mineralocorticoid excess (AME) is an autosomal recessive form of low-renin hypertension associated with low... (218030) more...

MalaCards based summary: Apparent Mineralocorticoid Excess, also known as cortisol 11-beta-ketoreductase deficiency, is related to ablepharon-macrostomia syndrome and acute mountain sickness, and has symptoms including hypertension, hypertensive retinopathy and failure to thrive. An important gene associated with Apparent Mineralocorticoid Excess is HSD11B2 (Hydroxysteroid 11-Beta Dehydrogenase 2), and among its related pathways are Aldosterone-regulated sodium reabsorption and Prostaglandin Synthesis and Regulation. Affiliated tissues include kidney, and related mouse phenotypes are muscle and behavior/neurological.

UniProtKB/Swiss-Prot:69 Apparent mineralocorticoid excess: An autosomal recessive form of low-renin hypertension. It is usually diagnosed within the first years of life and is characterized by polyuria and polydipsia, failure to thrive, hypernatremia, severe hypertension with low renin and aldosterone levels, profound hypokalemia with metabolic alkalosis, and most often nephrocalcinosis.

Wikipedia:70 Apparent mineralocorticoid excess (AME) is an autosomal recessive disorder causing hypertension (high... more...

Related Diseases for Apparent Mineralocorticoid Excess

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Diseases related to Apparent Mineralocorticoid Excess via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 177)
idRelated DiseaseScoreTop Affiliating Genes
1ablepharon-macrostomia syndrome11.5
2acute mountain sickness11.1
3dysplastic nevus syndrome10.8
4hemosiderosis10.8
5dystonia 2510.5NR3C2, REN
6paget disease of bone 410.4NR3C1, NR3C2
7antiphospholipid syndrome10.3HSD11B2, NR3C2, REN
8gallbladder adenoma10.2POMC, REN
9corpus luteum cyst10.2HSD11B2, POMC
10dressler's syndrome10.2POMC, REN
11priapism10.2HSD11B1, HSD11B2, NR3C1
12glioma susceptibility 110.2HSD11B2, POMC
13prosopagnosia10.2NR3C1, POMC
14actinic lichen planus10.2POMC, REN
15neurilemmoma of the pleura10.1POMC, REN
16cold-induced sweating syndrome 210.1NR3C1, POMC
17craniopharyngioma10.1POMC, REN
18retinal vein occlusion10.1ATP6V0A4, NR3C2, REN
19norwegian scabies10.1ATP6V0A4, POMC
20adrenal carcinoma10.1HSD11B1, POMC
21chancroid10.1POMC, REN
22first-degree atrioventricular block10.1POMC, REN
23hypoglycemic coma10.1NR3C1, POMC
24vestibular gland benign neoplasm10.0POMC, REN
25benign shuddering attacks10.0HSD11B2, POMC, REN
26broad ligament malignant neoplasm10.0REN, XK
27central nervous system angiosarcoma10.0HSD11B2, POMC, REN
28cardiovascular organ benign neoplasm10.0NR3C2, POMC, REN
29collecting duct carcinoma10.0NR3C2, POMC, REN
30aggressive systemic mastocytosis10.0REN, XK
31pituitary apoplexy10.0PIK3C2A, XK
32episodic kinesigenic dyskinesia 210.0CLCNKB, REN
33bronchiectasis with or without elevated sweat chloride 310.0HSD11B2, NR3C1, NR3C2, REN
34liddle syndrome10.0
35hypothyroidism10.0
36monocular esotropia9.9ATP6V0A4, XK
37persistent hyperplastic primary vitreous9.9NR3C1, POMC
38blepharitis9.9POMC, REN
39prostatitis9.8
40subvalvular aortic stenosis9.8ATP6V0A4, XK
41vasculogenic impotence9.8HSD17B6, POMC, REN
42leukemia9.8
43adrenal cortex disease9.8POMC, REN
44cystic fibrosis9.8
45pseudohypoaldosteronism9.8
46nephrocalcinosis9.8
47hypokalemic periodic paralysis, type 19.7ATP6V0A4, XK
48cataract9.7
49dwarfism9.7
50tuberous sclerosis-19.7ATP6V0A4, XK

Graphical network of the top 20 diseases related to Apparent Mineralocorticoid Excess:



Diseases related to apparent mineralocorticoid excess

Symptoms for Apparent Mineralocorticoid Excess

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Symptoms by clinical synopsis from OMIM:

218030

Clinical features from OMIM:

218030

Human phenotypes related to Apparent Mineralocorticoid Excess:

 63 (show all 10)
id Description HPO Frequency HPO Source Accession
1 hypertension63 HP:0000822
2 hypertensive retinopathy63 HP:0001095
3 failure to thrive63 HP:0001508
4 small for gestational age63 HP:0001518
5 hypokalemia63 HP:0002900
6 decreased circulating aldosterone level63 HP:0002924
7 decreased circulating renin level63 HP:0003351
8 hypoaldosteronism63 HP:0004319
9 short stature63 HP:0004322
10 metabolic alkalosis63 HP:0200114

Drugs & Therapeutics for Apparent Mineralocorticoid Excess

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Drugs for Apparent Mineralocorticoid Excess (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 15)
idNameStatusPhaseClinical TrialsCas NumberPubChem Id
1MineralocorticoidsPhase 2, Phase 3352
2Anti-Inflammatory AgentsPhase 2, Phase 310355
3HormonesPhase 2, Phase 313979
4Hormones, Hormone Substitutes, and Hormone AntagonistsPhase 2, Phase 312767
5
glycyrrhetinic acidPhase 2, Phase 39471-53-418526330
Synonyms:
18b-Glycyrrhetic acid
18b-Glycyrrhetinic acid
18b-Glycyrrhtinic acid
3-Glycyrrhetinic acid
3-Hydroxy-11-oxoolean-12-en-29-oate
3-Hydroxy-11-oxoolean-12-en-29-oic acid
3-Hydroxy-11-oxoolean-12-en-29-oic acid (ACD/Name 4.0)
3b-Hydroxy-11-oxo-Olean-12-en-30-oate
3b-Hydroxy-11-oxo-Olean-12-en-30-oic acid
3b-Hydroxy-11-oxoolean-12-en-30-oate
 
3b-Hydroxy-11-oxoolean-12-en-30-oic acid
Biosone
Enoxolone
Glycyrrhetic acid
Glycyrrhetin
Glycyrrhetinate
Glycyrrhetinic acid
Uralenic acid
a-Glycyrrhetinic acid
alpha-Glycyrrhetinic acid
b-Glycyrrhetic acid
beta-Glycyrrhetic acid
6Hormone AntagonistsPhase 2, Phase 312778
7LicoriceNutraceuticalPhase 2, Phase 333
8
Hydrocortisoneapproved, vet_approved64050-23-75754, 657311
Synonyms:
(11alpha,14beta)-11,17,21-trihydroxypregn-4-ene-3,20-dione
(11beta)-11,17,21-Trihydroxypregn-4-ene-3,20-dione
11-Hydrocortisone
11-beta-Hydrocortisone
11-beta-Hydroxycortisone
11a-Hydroxycorticosterone
11alpha-Hydroxycorticosterone
11b,17,21-Trihydroxyprogesterone
11b-Hydrocortisone
11b-Hydroxycortisone
11beta,17,21-Trihydroxyprogesterone
11beta,17alpha,21-Trihydroxy-4-pregnene-3,20-dione
11beta-Hydrocortisone
11beta-Hydroxycortisone
11beta-hydrocortisone
11╬▓-hydrocortisone
17-Hydroxycorticosterone
17a-Hydroxycorticosterone
17alpha-Hydroxycorticosterone
2v95
4-Pregnen-11beta,17alpha,21-triol-3,20-dione
4-Pregnene-11alpha,21-triol 3,20-dione
4-Pregnene-11b,17a,21-triol-3,20-dione
50-23-7
8056-08-4
80562-38-5
8063-42-1
AC-12902
AC1L1L2B
ACETASOL HC
ACETIC ACID W/ HYDROCORTISONE
AI3-25006
AKOS001582651
Acticort
Acticort (TN)
Aeroseb HC
Aeroseb-HC
Ala-Cort
Ala-Scalp
Alacort
Algicirtis
Alphaderm
Amberin
Anflam
Anti-inflammatory hormone
Anucort
Anucort-HC
Anusol HC
Anusol HC (TN)
Aquacort
Aquanil HC
B48448A1-24BA-47CA-8D9E-43E5BC949386
BPBio1_000544
BRD-K93568044-001-03-1
BSPBio_000494
Balneol-hc
Barseb HC
Basan-Corti
Beta-hc
Bio-0648
C00735
C21H30O5
CCRIS 5854
CHEBI:17650
CHEMBL389621
CID5754
COR-OTICIN
CPD000653523
CaldeCORT Spray
Cetacort
Chronocort
Clear aid
Cleiton
Cobadex
Colocort
Colocort (TN)
Compound F
Compound F (kendall)
Cor-Tar-Quin
Corhydron
Cort-Dome
Cort-Quin
Cortanal
Cortef
Cortef (TN)
Cortenema
Cortesal
Corticreme
Cortifair
Cortifan
Cortifoam
Cortiment
Cortisol
Cortisol alcohol
Cortisol, Hydrocortisone
Cortisolonum
Cortisporin
Cortisporin Otico
Cortispray
Cortizol
Cortolotion
Cortonema
Cortoxide
Cortril
Cremesone
Cremicort-H
Cutisol
Cyclodextrin-encapsulated hydrocortisone
D00088
DB00741
DB07886
Delacort
Derm-Aid
Dermacort
Dermaspray
Dermil
Dermocortal
Dermolate
Dihydrocostisone
Dioderm
Dome-cort
Domolene-HC
Drotic
DuoCort
EINECS 200-020-1
EU-0100594
Ef corlin
Efcorbin
Efcortelan
Efcortelin
Eldecort
Eldercort
Epicort
Epicortisol
Epiderm H
Esiderm H
Evacort
Ficortril
Fiocortril
Flexicort
Foille Insetti
Genacort
Genacort (lotion)
Glycort
Gyno-Cortisone
H 4001
H-Cort
H0135_SIGMA
H0396_SIGMA
H0888_SIGMA
H3160_SIGMA
H4001_SIGMA
H6909_SIGMA
HC
HC #1
 
HC #4
HC (HYDROCORTISONE)
HMS1569I16
HMS2090M04
HSDB 3339
HYDROCORTISONE AND ACETIC ACID
HYDROCORTISONE IN ABSORBASE
Heb Cort
Heb-Cort
Hi-cor
Hidalone
Hidro-Colisona
Hidrocortisona
Hidrocortisona [INN-Spanish]
Hycort
Hycortol
Hycortole
Hydracort
Hydrasson
Hydro-Adreson
Hydro-Colisona
Hydro-RX
Hydro-colisona
Hydrocort
Hydrocortal
Hydrocorticosterone
Hydrocortisone
Hydrocortisone (JP15/USP/INN)
Hydrocortisone Acetate
Hydrocortisone Base
Hydrocortisone Butyrate
Hydrocortisone Sodium Phosphate
Hydrocortisone Valerate
Hydrocortisone [INN:BAN:JAN]
Hydrocortisone alcohol
Hydrocortisone base
Hydrocortisone free alcohol
Hydrocortisone solution
Hydrocortisone-Water Soluble
Hydrocortisonum
Hydrocortisonum [INN-Latin]
Hydrocortistab
Hydrocortisyl
Hydrocortone
Hydroskin
Hydroxycortisone
Hysone
Hytisone
Hytone
Hytone (TN)
Hytone lotion
Idrocortisone
Idrocortisone [DCIT]
Incortin-H
Incortin-hydrogen
Kendall'S compound F
Kendall's compound F
Komed HC
Kyypakkaus
LMST02030001
LS-7439
Lacticare HC
Lacticare-HC
Lactisona
Lopac0_000594
Lubricort
MLS000069609
MLS001148103
MLS002207135
MLS002222189
Maintasone
Medicort
Meusicort
Mildison
Milliderm
MolPort-001-794-637
NCGC00022848-06
NCGC00022848-07
NCGC00022848-09
NCGC00022848-12
NCI60_000118
NSC 10483
NSC-10483
NSC10483
Neo-Cort-Dome
Neo-Cortef
Neosporin-H Ear
Nogenic HC
Nutracort
Nystaform-HC
ORLEX HC
Optef
Otalgine
Otic-Neo-Cort-Dome
Otobiotic
Otocort
Otosone-F
Pediotic Suspension
Penecort
Permicort
Polcort H
Preparation H Hydrocortisone Cream
Prepcort
Prestwick0_000447
Prestwick1_000447
Prestwick2_000447
Prestwick3_000447
Prestwick_265
Prevex HC
Proctocort
Proctofoam
Proctozone HC
Protocort
Racet
Rectasol-HC
Rectoid
Reichstein'S substance M
Reichstein's substance M
Remederm HC
S1696_Selleck
SAM002264617
SMP1_000156
SMR000059022
SMR000653523
SPBio_002433
Sanatison
Scalp-Cort
Scalpicin Capilar
Schericur
Scheroson F
Sigmacort
Signef
Stie-cort
Stiefcorcil
Synacort
Systral Hydrocort
Tarcortin
Texacort
Texacort lotion 25
Timocort
Topicort
Transderma H
Traumaide
UNII-WI4X0X7BPJ
UPCMLD-DP133
UPCMLD-DP133:001
Uniderm
Vioform-Hydrocortisone
VoSol HC
Vytone
Zenoxone
[3H]cortisol
component of Lubricort
component of Neo-Cort-Dome
component of Otalgine
hydrocortisone
9
Cortisone acetateapproved651950-04-4, 50-04-45745
Synonyms:
 
Cortisyl
Cortone acetate
10
butyric acidexperimental363107-92-6264
Synonyms:
1-Butanoate
1-Butanoic acid
1-Butyrate
1-Butyric acid
1-Propanecarboxylate
1-Propanecarboxylic acid
Butanate
Butanic acid
Butanoate
Butanoic acid
Buttersaeure
Butyrate
 
Butyric acid
Ethylacetate
Ethylacetic acid
Honey robber
Kyselina maselna
N-Butanoate
N-Butanoic acid
N-Butyrate
N-Butyric acid
Propanecarboxylate
Propanecarboxylic acid
Propylformate
Propylformic acid
11Hydrocortisone-17-butyrate318
12Hydrocortisone acetate640
13Hydrocortisone 17-butyrate 21-propionate640
14Cortisol succinate640
15
Cortisone6553-06-5222786
Synonyms:
Andreson
Anusol HC
Balneol-Hc
Colocort
Compound E
Corlin
Cortadren
Cortandren
Cortef
Cortef Acetate
Cortisal
Cortisate
Cortison
Cortisone Acetate
Cortistal
Cortivite
Cortogen
Cortone
Cortril
Dermacort
Dricort
Flexicort
 
Florinef
Fludrocortisone Acetate
Glycort
Hemsol-Hc
Hi-Cor
Incortin
Kendall'S Compound E
Kendall'S compound
Locoid
Locoid Lipocream
Micort-Hc
Nogenic HC
Orabase HCA
Pandel
Prestwick_132
Reichstein Fa
Reichstein'S Substance FA
Scheroson
Solu-Cortef
Stie-Cort
Texacort
Westcort
beta-Hc

Interventional clinical trials:

idNameStatusNCT IDPhase
1The Role of Mineralocorticoid Receptors in Vascular FunctionCompletedNCT00759525Phase 2, Phase 3
2Natural History of Apparent Mineralocorticoid Excess SyndromeCompletedNCT00474942
3An Investigation Into the Effect of Liquorice Ingestion on the Salivary Cortisol to Cortisone Molar RatioNot yet recruitingNCT02939144

Search NIH Clinical Center for Apparent Mineralocorticoid Excess


Cochrane evidence based reviews: mineralocorticoid excess syndrome, apparent

Genetic Tests for Apparent Mineralocorticoid Excess

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Genetic tests related to Apparent Mineralocorticoid Excess:

id Genetic test Affiliating Genes
1 Apparent Mineralocorticoid Excess26
2 Apparent Mineralocorticoid Excess Syndrome24 HSD11B2

Anatomical Context for Apparent Mineralocorticoid Excess

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MalaCards organs/tissues related to Apparent Mineralocorticoid Excess:

35
Kidney

Animal Models for Apparent Mineralocorticoid Excess or affiliated genes

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MGI Mouse Phenotypes related to Apparent Mineralocorticoid Excess:

40
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053699.0HSD11B1, HSD11B2, NR3C1, NR3C2, REN, XK
2MP:00053868.8ATP6V0A4, HSD11B1, HSD11B2, NR3C1, NR3C2, POMC
3MP:00053858.4HSD11B1, HSD11B2, NR3C1, NR3C2, PIK3C2A, POMC
4MP:00053978.0HSD11B1, NR3C1, NR3C2, PIK3C2A, POMC, REN
5MP:00036317.9HSD11B1, NR3C1, NR3C2, PIK3C2A, POMC, REN
6MP:00053677.0ATP6V0A4, CLCNKB, HSD11B2, NR3C1, NR3C2, PIK3C2A
7MP:00053766.8ATP6V0A4, CLCNKB, HSD11B1, HSD11B2, NR3C1, NR3C2

Publications for Apparent Mineralocorticoid Excess

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Articles related to Apparent Mineralocorticoid Excess:

(show top 50)    (show all 59)
idTitleAuthorsYear
1
A novel mutation in HSD11B2 causes apparent mineralocorticoid excess in an Omani kindred. (27526338)
2016
2
Apparent mineralocorticoid excess. (26956190)
2016
3
Apparent mineralocorticoid excess and the long term treatment of genetic hypertension. (26892095)
2016
4
Apparent Mineralocorticoid Excess Syndrome: A Case of Resistant Hypertension From Licorice Tea Consumption. (27251761)
2016
5
Apparent Mineralocorticoid Excess by a Novel Mutation and Epigenetic Modulation by HSD11B2 Promoter Methylation. (26126204)
2015
6
Two Qatari siblings with cystic fibrosis and apparent mineralocorticoid excess. (25593612)
2015
7
A case of iatrogenic Cushing syndrome and apparent mineralocorticoid excess presenting with accelerated hypertension and proteinuria. (25201428)
2014
8
Apparent Mineralocorticoid Excess Caused by a Novel Mutation in 11-I^ Hydroxysteroid Dehydrogenase Type 2 Enzyme: Its Genetics and Response to Therapy. (24936560)
2014
9
Remission of hypertension and electrolyte abnormalities following renal transplantation in a patient with apparent mineralocorticoid excess well documented throughout childhood. (23945123)
2014
10
Apparent mineralocorticoid excess (AME) syndrome. (23665601)
2013
11
Apparent mineralocorticoid excess syndrome: report of one family with three affected children. (23329753)
2012
12
Apparent mineralocorticoid excess - update. (21691952)
2011
13
Familial glucocorticoid receptor haploinsufficiency by non-sense mediated mRNA decay, adrenal hyperplasia and apparent mineralocorticoid excess. (21042587)
2010
14
Apparent mineralocorticoid excess syndrome in a Brazilian boy caused by the homozygous missense mutation p.R186C in the HSD11B2 gene. (19169481)
2008
15
A switch in the mechanism of hypertension in the syndrome of apparent mineralocorticoid excess. (18032795)
2008
16
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. (17516565)
2007
17
Impaired protein stability of 11beta-hydroxysteroid dehydrogenase type 2: a novel mechanism of apparent mineralocorticoid excess. (17314322)
2007
18
Apparent mineralocorticoid excess manifested in an elderly patient with hypothyroidism. (17198920)
2007
19
In vitro expression studies of a novel mutation delta299 in a patient affected with apparent mineralocorticoid excess. (15126515)
2004
20
Distinction between Liddle syndrome and apparent mineralocorticoid excess. (14625721)
2004
21
Molecular basis for the apparent mineralocorticoid excess syndrome in the Oman population. (15134813)
2004
22
Late-onset apparent mineralocorticoid excess caused by novel compound heterozygous mutations in the HSD11B2 gene. (12860834)
2003
23
The distinction between Liddle syndrome and apparent mineralocorticoid excess. (12759812)
2003
24
Congenital deficiency of 11beta-hydroxysteroid dehydrogenase (apparent mineralocorticoid excess syndrome): diagnostic value of urinary free cortisol and cortisone. (11227727)
2001
25
Apparent mineralocorticoid excess. (11306334)
2001
26
Syndrome of apparent mineralocorticoid excess caused by a deficiency of 11 beta-hydroxysteroid dehydrogenase: clinical and genetic study in a Chilean family followed for 19 years]. (10883518)
2000
27
Liquorice-induced sodium retention. Merely an acquired condition of apparent mineralocorticoid excess? A case report. (11202632)
2000
28
Hormonal hypertension in children: 11beta-hydroxylase deficiency and apparent mineralocorticoid excess. (11154148)
2000
29
Steroid disorders in children: congenital adrenal hyperplasia and apparent mineralocorticoid excess. (10536001)
1999
30
Genetic, biochemical, and clinical studies of patients with A328V or R213C mutations in 11betaHSD2 causing apparent mineralocorticoid excess. (10489390)
1999
31
Mutants of 11beta-hydroxysteroid dehydrogenase (11-HSD2) with partial activity: improved correlations between genotype and biochemical phenotype in apparent mineralocorticoid excess. (10523339)
1999
32
Examination of genotype and phenotype relationships in 14 patients with apparent mineralocorticoid excess. (9661590)
1998
33
The codon 213 of the 11beta-hydroxysteroid dehydrogenase type 2 gene is a hot spot for mutations in apparent mineralocorticoid excess. (9851783)
1998
34
Molecular basis for hypertension in the 'type II variant' of apparent mineralocorticoid excess. (9683587)
1998
35
Apparent mineralocorticoid excess in a Brazilian kindred: hypertension in the heterozygote state. (9431844)
1997
36
A new compound heterozygous mutation in the 11 beta-hydroxysteroid dehydrogenase type 2 gene in a case of apparent mineralocorticoid excess. (9398712)
1997
37
11 beta-Hydroxysteroid dehydrogenase and the syndrome of apparent mineralocorticoid excess. (9034789)
1997
38
A case of apparent mineralocorticoid excess caused by type 2 11 beta- hydroxysteroid dehydrogenase deficiency]. (9404418)
1997
39
Apparent mineralocorticoid excess: genotype is correlated with biochemical phenotype. (8641723)
1996
40
Hypertension in the syndrome of apparent mineralocorticoid excess due to mutation of the 11 beta-hydroxysteroid dehydrogenase type 2 gene. (8538347)
1996
41
Point mutations abolish 11 beta-hydroxysteroid dehydrogenase type II activity in three families with the congenital syndrome of apparent mineralocorticoid excess. (8793850)
1996
42
Apparent mineralocorticoid excess: type I and type II. (8732999)
1996
43
Apparent mineralocorticoid excess due to 11 beta-hydroxysteroid dehydrogenase deficiency: a possible cause of intrauterine growth retardation. (8729536)
1996
44
The R337C mutation generates a high Km 11 beta-hydroxysteroid dehydrogenase type II enzyme in a family with apparent mineralocorticoid excess. (7593456)
1995
45
Several homozygous mutations in the gene for 11 beta-hydroxysteroid dehydrogenase type 2 in patients with apparent mineralocorticoid excess. (7593417)
1995
46
Apparent mineralocorticoid excess, 11beta hydroxysteroid dehydrogenase and aldosterone action Closing one loop, opening another. (18406708)
1995
47
A mutation in the HSD11B2 gene in a family with apparent mineralocorticoid excess. (7608290)
1995
48
Defects in the HSD11 gene encoding 11 beta-hydroxysteroid dehydrogenase are not found in patients with apparent mineralocorticoid excess or 11-oxoreductase deficiency. (8370690)
1993
49
Investigation of the mechanism of hypertension in apparent mineralocorticoid excess. (8393954)
1993
50
Apparent mineralocorticoid excess, pseudohypoaldosteronism, and urinary electrolyte excretion: toward a redefinition of mineralocorticoid action. (2172062)
1990

Variations for Apparent Mineralocorticoid Excess

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UniProtKB/Swiss-Prot genetic disease variations for Apparent Mineralocorticoid Excess:

69 (show all 14)
id Symbol AA change Variation ID SNP ID
1HSD11B2p.Arg208CysVAR_006958rs121917780
2HSD11B2p.Arg213CysVAR_006959rs28934591
3HSD11B2p.Leu179ArgVAR_015635
4HSD11B2p.Ser180PheVAR_015636
5HSD11B2p.Arg186CysVAR_015637rs768507002
6HSD11B2p.Arg208HisVAR_015638rs28934592
7HSD11B2p.Ala237ValVAR_015640
8HSD11B2p.Asp244AsnVAR_015641
9HSD11B2p.Leu250ArgVAR_015642
10HSD11B2p.Arg279CysVAR_015644rs28934594
11HSD11B2p.Ala328ValVAR_015645
12HSD11B2p.Tyr338HisVAR_015646rs387907117
13HSD11B2p.Asp223AsnVAR_066514rs121917833
14HSD11B2p.Arg337CysVAR_066515rs121917781

Clinvar genetic disease variations for Apparent Mineralocorticoid Excess:

5 (show all 11)
id Gene Variation Type Significance SNP ID Assembly Location
1HSD11B2NM_000196.3(HSD11B2): c.622C> T (p.Arg208Cys)SNVPathogenicrs121917780GRCh37Chr 16, 67470003: 67470003
2HSD11B2NM_000196.3(HSD11B2): c.637C> T (p.Arg213Cys)SNVPathogenicrs28934591GRCh37Chr 16, 67470018: 67470018
3HSD11B2NM_000196.3(HSD11B2): c.1009C> T (p.Arg337Cys)SNVPathogenicrs121917781GRCh37Chr 16, 67470697: 67470697
4HSD11B2NM_000196.3(HSD11B2): c.623G> A (p.Arg208His)SNVPathogenicrs28934592GRCh37Chr 16, 67470004: 67470004
5HSD11B2NM_000196.3(HSD11B2): c.1010_1012delGCT (p.Arg337_Tyr338delinsHis)deletionPathogenicrs397509434GRCh37Chr 16, 67470698: 67470700
6HSD11B2NM_000196.3(HSD11B2): c.835C> T (p.Arg279Cys)SNVPathogenicrs28934594GRCh37Chr 16, 67470523: 67470523
7HSD11B2NM_000196.3(HSD11B2): c.667G> A (p.Asp223Asn)SNVPathogenicrs121917833GRCh37Chr 16, 67470154: 67470154
8HSD11B2NM_000196.3(HSD11B2): c.895_897delTAC (p.Tyr299del)deletionPathogenicrs794726670GRCh37Chr 16, 67470583: 67470585
9HSD11B2NM_000196.3(HSD11B2): c.664+14C> TSNVPathogenicrs376023420GRCh37Chr 16, 67470059: 67470059
10HSD11B2NM_000196.3(HSD11B2): c.1012T> C (p.Tyr338His)SNVPathogenicrs387907117GRCh37Chr 16, 67470700: 67470700
11HSD11B2NM_000196.3(HSD11B2): c.77_78delCA (p.Ser26Terfs)deletionPathogenicrs794726684GRCh37Chr 16, 67465228: 67465229

Expression for genes affiliated with Apparent Mineralocorticoid Excess

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Search GEO for disease gene expression data for Apparent Mineralocorticoid Excess.

Pathways for genes affiliated with Apparent Mineralocorticoid Excess

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GO Terms for genes affiliated with Apparent Mineralocorticoid Excess

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Biological processes related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1glucocorticoid biosynthetic processGO:00067049.8HSD11B1, HSD11B2
2excretionGO:00075889.7ATP6V0A4, CLCNKB

Molecular functions related to Apparent Mineralocorticoid Excess according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
111-beta-hydroxysteroid dehydrogenase [NAD(P)] activityGO:000384510.2HSD11B1, HSD11B2
2steroid bindingGO:00054969.5HSD11B2, NR3C1, NR3C2

Sources for Apparent Mineralocorticoid Excess

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2CDC
6CNVD
10DGIdb
15ExPASy
16FDA
17FMA
26GTR
27HGMD
28HMDB
29ICD10
30ICD10 via Orphanet
31ICD9CM
32IUPHAR
33KEGG
36MedGen
38MeSH
39MESH via Orphanet
40MGI
43NCI
44NCIt
45NDF-RT
48NINDS
49Novoseek
51OMIM
52OMIM via Orphanet
56PubMed
57QIAGEN
62SNOMED-CT via Orphanet
66Tumor Gene Family of Databases
67UMLS
68UMLS via Orphanet